Product Details

SNP ID
rs113288259
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:99105288 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTATGACTACGTGTGTCGGGTGC[A/G]GGAGCTGGAGCGCGAAAACCTACTC
Phenotype
MIM: 606087
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SYNM PubMed Links

Gene Details

Gene
SYNM
Gene Name
synemin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015286.5 209 Missense Mutation CAG,CGG Q30R NP_056101.5
NM_145728.2 209 Missense Mutation CAG,CGG Q30R NP_663780.2
XM_017022035.1 209 Missense Mutation CAG,CGG Q30R XP_016877524.1

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